The efficacy of Everolimus onTSC associated drug resistant epilepsy

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder. In these patients, Disruption of the mammalian target of the rapamycin (m-TOR) pathway can cause many abnormalities in various organs, especially in the central nervous system. Seizures are the common clinical manifestation in these patients, most of which begin in the first year of life, and interfere with child's neurological, cognitive, and social development. Drug resistance epilepsy control is associated with lower rates of cognitive impairment. Objective: The objective of this study was to analyses the efficacy of everolimus in patients with TSC- associated drug-resistant epilepsy. Methods: Patients’ data included seizure type, age at onset, antiepileptic drugs (AED) used for treatment, the number of seizures before and after everolimus, and neurodevelopmental status were collected. We used everolimus with mean dosage of 4.7 ± 1.4 mg/m2 for patients with refractory epilepsy. Drug efficacy defined as greater than or equal to 50% reduction in seizure number. Results: 41.1% of the patients presented with infantile spasms and 29.4% with focal seizures. The mean age at seizure onset was 13.7 ± 4.28 months (range 2-72 months), 76.4 % of the patients had >= 50% seizure reduction. There was no relationship between epilepsy type and response to everolimus. Also 29.4% of the patients had behavioral improvement. Interpretation: Everolimus can be a therapeutic option for refractory epilepsy and behavioral improvement in TSC patients.

KEYWORDS: TSC, Everolimus, m-TOR, epilepsy
Keywords: TSC , Everolimus , Epilepsy, mTOR